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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

VLDLR Gene

protein-coding   GIFtS: 65
GCID: GC09P002611

very low density lipoprotein receptor
 Explore 35 diseases affiliated with
VLDLR via
MalaCards
our new
 Human Malady Compendium 
Biological research products
for VLDLR    

Aliases
for VLDLR gene

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section
Aliases
Very Low Density Lipoprotein Receptor1 2     CHRMQ12
VLDL-R2 3     VLDLRCH2
VLDL Receptor2 3     Very Low-Density Lipoprotein Receptor2
CARMQ12 5     

External Ids:    HGNC: 126981   Entrez Gene: 74362   Ensembl: ENSG000001478527   OMIM: 1929775   UniProtKB: P981553   

Export aliases for VLDLR gene to outside databases

Previous GC identifers: GC09P002776 GC09P002603 GC09P002612


Summaries
for VLDLR gene

(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section
Entrez Gene summary for VLDLR:
The low density lipoprotein receptor (LDLR) gene family consists of cell surface proteins involved in receptor-mediated
endocytosis of specific ligands. This gene encodes a lipoprotein receptor that is a member of the LDLR family and
plays important roles in VLDL-triglyceride metabolism and the reelin signaling pathway. Mutations in this gene cause
VLDLR-associated cerebellar hypoplasia. Alternative splicing generates multiple transcript variants encoding distinct
isoforms for this gene. (provided by RefSeq, Aug 2009)

UniProtKB/Swiss-Prot: VLDLR_HUMAN, P98155
Function: Binds VLDL and transports it into cells by endocytosis. In order to be internalized, the receptor-ligand
complexes must first cluster into clathrin-coated pits. Binding to Reelin induces tyrosine phosphorylation of Dab1 and
modulation of Tau phosphorylation (By similarity)

Gene Wiki entry for VLDLR (VLDL receptor)


Genomic Views
for VLDLR gene

(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000009.11  NC_018920.1  NT_008413.18  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the VLDLR gene promoter:
         USF1   ISGF-3   AML1a   NCX/Ncx   FosB   AP-2gamma   Arnt   S8   HSF2   USF-1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmids (see all 2): VLDLR promoter sequence
   Search SABiosciences Chromatin IP Primers for VLDLR

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat VLDLR


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 9p24   Ensembl cytogenetic band:  9p24.2   HGNC cytogenetic band: 9p24

VLDLR Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
VLDLR gene location

GeneLoc information about chromosome 9         GeneLoc Exon Structure

GeneLoc location for GC09P002611:  view genomic region     (about GC identifiers)

Start:
 2,621,793 bp from pter      End:
 2,654,485 bp from pter
Size:
 32,693 bases      Orientation:
 plus strand

Proteins
for VLDLR gene

(According to 1UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to 2PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section
UniProtKB/Swiss-Prot: VLDLR_HUMAN, P98155 (See protein sequence)
Recommended Name: Very low-density lipoprotein receptor precursor  
Size: 873 amino acids; 96098 Da
Subunit: Binds to the extracellular matrix protein Reelin. Interacts with VLDLR. Interacts with SNX17 (By similarity).
Interacts with DAB1. Receptor for the minor-group human rhinoviruses (HRVs); binds protein VP1 through the second and
third LDL-receptor class A domains. Interacts with PCSK9
Subcellular location: Membrane; Single-pass type I membrane protein. Membrane, clathrin-coated pit; Single-pass type I
membrane protein
2 PDB 3D structures from and Proteopedia for VLDLR:
1V9U (3D)        3DPR (3D)    
Secondary accessions: B2RMZ7 D3DRH6 Q5VVF6
Alternative splicing: 2 isoforms:  P98155-1   P98155-2   

Explore the universe of human proteins at neXtProt for VLDLR: NX_P98155

Post-translational modifications:

  • Ubiquitinated at Lys-839 by MYLIP leading to degradation1
  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_P98155

    • VLDLR Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

    REFSEQ proteins (2 alternative transcripts): 
    NP_001018066.1  NP_003374.3  

    ENSEMBL proteins: 
     ENSP00000371532   ENSP00000371528   ENSP00000371531   ENSP00000371524  

    Human Recombinant Protein Products: 
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    OriGene Protein Over-expression Lysate: VLDLR
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    Novus Biologicals VLDLR Lysate
    Sino Biological Recombinant Protein for VLDLR
    Browse ProSpec Recombinant Proteins
    Uscn Proteins for VLDLR

    Gene Ontology (GO): 5/10 cellular component terms (GO ID links to tree view) (see all 10):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005615extracellular space ----
    GO:0005634nucleus ----
    GO:0005886plasma membrane TAS10380922
    GO:0005905coated pit IEA--
    GO:0009986cell surface ----


    VLDLR for ontologies           About GeneDecksing



    VLDLR Antibody Products: 
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    Novus Biologicals VLDLR Antibodies
    Search for Antibodies for VLDLR at Abcam  
    Uscn Antibodies for VLDLR
    ThermoFisher Antibody for VLDLR

    Assay Products for VLDLR: 
    Browse Kits and Assays available from EMD Millipore
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    Browse OriGene Fluorogenic Cell Assay Kits
    Browse R&D Systems for biochemical assays
    GenScript Custom Assay Services for VLDLR
    Browse Enzo Life Sciences for kits & assays
    Uscn ELISAs and CLIAs for VLDLR

    Protein Domains /
    Families
    for VLDLR gene

    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    VLDLR for domains           About GeneDecksing

    5/10 InterPro domains/families (see all 10):
     IPR002172 LDrepeatLR_classA_rpt
     IPR000033 LDLR_classB_rpt
     IPR001881 EGF-like_Ca-bd
     IPR023415 LDLR_class-A_CS
     IPR000742 EG-like_dom

    Graphical View of Domain Structure for InterPro Entry P98155

    ProtoNet protein and cluster: P98155

    4 Blocks protein families:
    IPB000033 Low-density lipoprotein receptor
    IPB000152 Aspartic acid and asparagine hydroxylation site
    IPB001881 EGF-like calcium-binding
    IPB002172 Low density lipoprotein-receptor


    UniProtKB/Swiss-Prot: VLDLR_HUMAN, P98155
    Similarity: Contains 3 EGF-like domains
    Similarity: Contains 8 LDL-receptor class A domains
    Similarity: Contains 6 LDL-receptor class B repeats


    Function
    for VLDLR gene

    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
    About This Section
    Function Summary:

         UniProtKB/Swiss-Prot: VLDLR_HUMAN, P98155
    Function: Binds VLDL and transports it into cells by endocytosis. In order to be internalized, the receptor-ligand
    complexes must first cluster into clathrin-coated pits. Binding to Reelin induces tyrosine phosphorylation of Dab1 and
    modulation of Tau phosphorylation (By similarity)

         Genatlas biochemistry entry for VLDLR:
    very low density lipoprotein/ApoE receptor,containing a CGG repeat in 5'utr,(may be a susceptibility gene for late
    onset senile Alzheimer disease)

    miRNA
    Products:            		 OriGene 3'-UTR Clone (see all 2): VLDLR
    Browse MicroRNA Expression Plasmids
    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat VLDLR
    8/42 QIAGEN miScript miRNA Assays for microRNAs that regulate VLDLR (see all 42):
    hsa-miR-520e hsa-miR-302d hsa-miR-520f hsa-miR-429 hsa-miR-106a hsa-let-7a-2* hsa-miR-3138 hsa-miR-372
    SwitchGear 3'UTR luciferase reporter plasmid: VLDLR 3' UTR sequence
    Inhib. RNA
    Products:            		Browse for Gene Knock-down Tools from EMD Millipore
    OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for VLDLR (see all 7)
    OriGene shRNA RFP: VLDLR
    OriGene siRNA: VLDLR
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat VLDLR

    Gene Editing
    Products:    		DNA2.0 Custom Protein Engineering Service for VLDLR

    Clone
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    OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for VLDLR (see all 5)
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    Cell Line
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    LifeMap BioReagents: cell line associated with VLDLR: PureStem Z11, Meso Progenitor

    In Situ Assay
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    Gene Ontology (GO): 5/11 molecular function terms (GO ID links to tree view) (see all 11):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0001948glycoprotein binding IPI10571240
    GO:0004872receptor activity ----
    GO:0005041low-density lipoprotein receptor activity TAS10380922
    GO:0005509calcium ion binding IEA--
    GO:0005515protein binding IPI8083232


    VLDLR for ontologies           About GeneDecksing


    1 GenomeRNAi human phenotype for VLDLR:
     Decreased viability 

    Animal Models:
         Mouse knock-out Vldlrtm1Her for VLDLR
         10 MGI mutant phenotypes (inferred from 3 alleles) (MGI details for Vldlr):
     adipose tissue  behavior/neurological  cardiovascular system  cellular  growth/size 
     homeostasis/metabolism  mortality/aging  nervous system  pigmentation  vision/eye 

    VLDLR for phenotypes           About GeneDecksing


    Pathways & Interactions
    for VLDLR gene

    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene).
    About This Section

    Unified GeneCards pathways  About this table 
    See pathways by source

    Super-pathwaycontained gene-specific pathways
    1Reelin Pathway (Cajal-Retzius cells)
    		Reelin Pathway (Cajal-Retzius cells)1.00
    2Guidance Cues and Growth Cone Motility
    		Guidance Cues and Growth Cone Motility1.00
    3Reelin signaling pathway
    		Reelin signaling pathway1.00
    4Lissencephaly gene (LIS1) in neuronal migration and development
    		Lissencephaly gene (LIS1) in neuronal migration and development1.00

    2 Downloadable PowerPoint Slides of QIAGEN Pathway Central Maps for VLDLR
        Guidance Cues and Growth Cone Motility
    Reelin Pathway (Cajal-Retzius cells)

    2 BioSystems Pathways for VLDLR 
        Reelin signaling pathway
    Lissencephaly gene (LIS1) in neuronal migration and development


    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for VLDLR

    STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

    5/29 Interacting proteins for VLDLR (P981553 ENSP000003715324) via UniProtKB, MINT, STRING, and/or I2D (see all 29)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    DAB1O755533, ENSP000003602774I2D: score=5 STRING: ENSP00000360277
    SNX17Q150363, ENSP000002335754I2D: score=3 STRING: ENSP00000233575
    LPLP068583, ENSP000003097574I2D: score=2 STRING: ENSP00000309757
    RELNP785093, ENSP000003924234I2D: score=2 STRING: ENSP00000392423
    APOEP026493, ENSP000002524864I2D: score=1 STRING: ENSP00000252486
    About this table

    Gene Ontology (GO): 5/25 biological process terms (GO ID links to tree view) (see all 25):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000122negative regulation of transcription from RNA polymerase II promoter ISS--
    GO:0001666response to hypoxia ----
    GO:0006869lipid transport IEA--
    GO:0006898receptor-mediated endocytosis IDA10571240
    GO:0007165signal transduction TAS10380922


    VLDLR for ontologies           About GeneDecksing



    Drugs & Compounds
    for VLDLR gene

    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section

    VLDLR for compounds           About GeneDecksing

    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for VLDLR
    10/11 Novoseek chemical compound relationships for VLDLR gene (see all 11)    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    lipid 39.3 17 10488949 (2), 15863833 (2), 9410893 (1), 9409253 (1) (see all 10)
    cholesterol 38.7 17 11839845 (3), 20030366 (1), 15010349 (1), 17685481 (1) (see all 12)
    fatty acid 20 3 16957181 (1), 9264123 (1), 19874644 (1)
    sterol 15.8 3 7828550 (1), 10488949 (1)
    triacylglycerol 6.01 3 7925422 (1), 12840916 (1)
    serine 4.67 4 10085143 (1), 9346278 (1), 9346319 (1)
    phosphoinositide 0 1 15883038 (1)
    phospholipid 0 1 8409765 (1)
    tyrosine 0 2 11854295 (1), 15883038 (1)
    creatinine 0 1 16384981 (1)

    Search CenterWatch for drugs/clinical trials and news about VLDLR 

    Transcripts
    for VLDLR gene

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 235 Homo sapiens; Mar 10 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section
    REFSEQ mRNAs for VLDLR gene (2 alternative transcripts): 
    NM_001018056.1  NM_003383.3  

    Unigene Cluster for VLDLR:

    Very low density lipoprotein receptor
    Hs.370422  [show with all ESTs]
    Unigene Representative Sequence: L20470
    5 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000382100(uc003zhk.1 uc003zhl.1 uc003zhm.1) ENST00000382096
    ENST00000382099 ENST00000382092 ENST00000478776

    miRNA
    Products:             		 OriGene 3'-UTR Clone (see all 2): VLDLR
    Browse OriGene MicroRNA Expression Plasmids
    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat VLDLR
    8/42 QIAGEN miScript miRNA Assays for microRNAs that regulate VLDLR (see all 42):
    hsa-miR-520e hsa-miR-302d hsa-miR-520f hsa-miR-429 hsa-miR-106a hsa-let-7a-2* hsa-miR-3138 hsa-miR-372
    SwitchGear 3'UTR luciferase reporter plasmid: VLDLR 3' UTR sequence
    Inhib. RNA
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    OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for VLDLR (see all 7)
    OriGene shRNA RFP: VLDLR
    OriGene siRNA: VLDLR
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat VLDLR
    Clone
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    Primer
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      QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat VLDLR
      QIAGEN QuantiFast Probe-based Assays in human, mouse, rat VLDLR

    Additional cDNA sequence: 

    AB208822.1 AK092381.1 AK095744.1 AK289527.1 BC136562.1 BC142653.1 BC144245.1 D16493.1 
    D16494.1 L20470.1 L22431.1 S73849.1 

    11 DOTS entries:

    DT.95162785  DT.445283  DT.95162788  DT.121199610  DT.95162786  DT.100783166  DT.40202618  DT.92007717 
    DT.445284  DT.95162789  DT.121199462 

    24/110 AceView cDNA sequences (see all 110):

    CR620590 D16493 AU130860 BU677670 AA357050 CR599863 AA461614 BU633666 
    CN479223 BE348247 AX747508 AA758887 BX508834 BE742166 T07960 BM558836 
    BM810111 BE733087 AK092381 BM987917 AU132660 AU125996 D16494 BU634296 

    GeneLoc Exon Structure

    5/9 Alternative Splicing Database (ASD) splice patterns (SP) for VLDLR (see all 9)    About this scheme

    ExUns: 1 ^ 2a · 2b ^ 3a · 3b ^ 4 ^ 5a · 5b ^ 6 ^ 7a · 7b ^ 8a · 8b ^ 9a · 9b ^ 10a · 10b ^ 11 ^ 12 ^ 13 ^ 14a · 14b ^ 15a · 15b ^ 16a · 16b ·
    SP1:                                      -                                                                             -     -                                 
    SP2:                                      -                                                                                                                     
    SP3:                                                                                                                                                            
    SP4:                                                                                                                          -                                 
    SP5:                                                                                                                          -                                 

    ExUns: 16c
    SP1:      
    SP2:      
    SP3:      
    SP4:      
    SP5:      


    ECgene alternative splicing isoforms for VLDLR

    Expression
    for VLDLR gene

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    VLDLR expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: AACTTTGACA

    Microarray
    RNAseq (Illumina Body Map)
    (100×FPKM)½
    SAGE (Serial Analysis of Gene Expression)
    About this image

    VLDLR expression in embryonic tissues and stem cells
    Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine    About this table
    6 LifeMap In Vivo Development Anatomical Compartments/Cells 
    Tissue Anatomical Compartment CellCategory (developmental path)
    KidneyRenal Collecting Duct SystemCollecting Duct CellsKidney
    Spinal CordSpinal Ventral ColumnsVentral Spinal Cord Progenitor CellsMotor Neurons
    BoneThoracic RibBone
    KidneyMetanephrosKidney
    KidneyRenal Collecting Duct SystemKidney
    Spinal CordSpinal Ventral ColumnsSpinal Cord
    Expression: Positive    Negative     Selective marker
    Experimental details: Curated     Microarrays     In-situ hybridization
    Stem Cell Differentiation: 3 LifeMap Cells 
    NameCategory
    PureStem™ myogenic progenitor Z11 (Embryonic Progenitor Cell)Heart, Myocardium, Smooth Muscle
    Definitive endoderm-like cells (Generation and expan...)
    Definitive endoderm-like cells (A scalable, suspensi...)

    See VLDLR Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for VLDLR

    SOURCE GeneReport for Unigene cluster: Hs.370422

    UniProtKB/Swiss-Prot: VLDLR_HUMAN, P98155
    Tissue specificity: Abundant in heart and skeletal muscle; also ovary and kidney; not in liver

        SABiosciences Expression via Pathway-Focused PCR Arrays including VLDLR: 
              Insulin Resistance in human mouse rat
              Lipoprotein Signaling & Cholesterol Metabolism in human mouse rat

    Primer
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    QIAGEN QuantiFast Probe-based Assays in human, mouse, rat VLDLR
    In Situ
    Assay Products:     
         		Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for VLDLR

    Orthologs
    for VLDLR gene

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
    About This Section
    This gene was present in the common ancestor of animals.

    Orthologs for VLDLR gene from 6/19 species (see all 19)    About this table
    Organism Taxonomic
    classification    		 Gene Description Human
    Similarity    		 Orthology
    Type    		 Details
    chicken
    (Gallus gallus)    		 Aves VLDLR1 very low density lipoprotein receptor 78.8(n)
    83.86(a)    		   396154  NM_205229.1  NP_990560.1 
    lizard
    (Anolis carolinensis)    		 Reptilia VLDLR6
    		 --
    		 72(a)
    		 1 ↔ 1
    		 2(51134441-51151419)
    African clawed frog
    (Xenopus laevis)    		 Amphibia Xl.9982 Xenopus laevis mRNA for vitellogenin receptor, complete more 78.08(n)    AB006906.1 
    zebrafish
    (Danio rerio)    		 Actinopterygii zgc557922 similar to very low density lipoprotein receptor 75.63(n)   393897  BC047187.1 
    fruit fly
    (Drosophila melanogaster)    		 Insecta CG48613
    LpR11    		 low-density lipoprotein receptor3
    Lipophorin receptor 11    		 40(a)3
    51.54(n)1
    45.26(a)1    		   27686871  NM_001170263.11  NP_001163734.11 
    worm
    (Caenorhabditis elegans)    		 Secernentea R01H2.33
    T13C2.61    		 Protein T13C2.61 38(a)
    (best of 2)3
    50.7(n)1
    40.5(a)1    		   III(7130392-7132330)3
    1741161  NM_182223.31  NP_872023.21 


    ENSEMBL Gene Tree for VLDLR (if available)
    TreeFam Gene Tree for VLDLR (if available) 

    Paralogs
    for VLDLR gene

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for VLDLR gene
    LRP52  LRP62  LRP22  SORL12  LRP1B2  EGF2  LDLR2  LRP5L2  
    LRP42  NID22  NID12  LRP82  LRP12  
    18/19 SIMAP similar genes for VLDLR using alignment to 4 protein entries:     VLDLR_HUMAN (see all proteins) (see all similar genes):
    ldlr    PROS1    LDLR    LRP8    LRP4    LRP5L
    LRP3    LRP1B    LDLRAD3    LRP1    SORL1    LRP10
    CORIN    LRP6    ST14    LRP2    C10orf112    HSPG2

    VLDLR for paralogs           About GeneDecksing


    1 Pseudogenes.org Pseudogene for VLDLR
    PGOHUM00000246154


    Genomic Variants
    for VLDLR gene

    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/880 NCBI SNPs in VLDLR are shown (see all 880)     About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance    		Chr 9 posSequence#AA
    Chg    		TypeMore#Allele
    freq    		PopTotal
    sample    		More
    ----------
    rs803389051,2
    		Cpathogenic69135739(+) CTAATA/C/TGAAGA 6 R * syn1 stg11NA 4552
    rs803389071,2
    		Cpathogenic69137865(+) AGTGGC/TGATGT 4 R * stg10--------
    rs357925301,2
    		F--2575019(+) GTATCT/CCTGAG 2 -- us2k12Minor allele frequency- C:0.11NS 92
    rs766428911,2
    		--2575196(+) TCACAC/TCTCAA 2 -- us2k10--------
    rs772075491,2
    		--2575256(+) ACAAAC/GAAATT 2 -- us2k11Minor allele frequency- G:0.01EA 120
    rs357757731,2
    		C,F,--2575363(+) CAAGAT/GACCAT 2 -- us2k16Minor allele frequency- G:0.07NS NA CSA WA 216
    rs358406741,2
    		C,F,--2575435(+) AGAAAC/ACTATC 2 -- us2k15Minor allele frequency- A:0.05NS NA WA 214
    rs341881451,2
    		C,--2575454(+) AATTTT/CCCTCT 2 -- us2k13Minor allele frequency- C:0.01NS NA 94
    rs345183631,2
    		C,--2575601(+) TAGAGT/CCAGAA 2 -- us2k15Minor allele frequency- C:0.02NS NA 216
    rs358376711,2
    		C,F,--2575644(+) TAAGAT/CAAAAA 2 -- us2k13Minor allele frequency- C:0.02NS NA 94

    HapMap Linkage Disequilibrium report for VLDLR (2621793 - 2654485 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
          Database of Genomic Variants (DGV) variations for VLDLR: --
    Human Gene Mutation Database (HGMD): VLDLR

    SABiosciences Cancer Mutation PCR Assays
    QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing VLDLR
    DNA2.0 Custom Variant and Variant Library Synthesis for VLDLR

    Disorders / Diseases
    for VLDLR gene

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    VLDLR for disorders           About GeneDecksing

    OMIM gene information: 192977   
    OMIM disorders: 224050  
    UniProtKB/Swiss-Prot: VLDLR_HUMAN, P98155
  • Defects in VLDLR are the cause of cerebellar ataxia mental retardation and dysequilibrium syndrome type 1
    • (CMARQ1) [MIM:224050]; also known as dysequilibrium syndrome (DES) or non-progressive cerebellar disorder with mental
    retardation. CMARQ1 is a congenital, non-progressive cerebellar ataxia associated with disturbed equilibrium, delayed
    ambulation, mental retardation and cerebellar hypoplasia. Additional features include short stature, strabismus, pes
    planus and, rarely, seizures

    20/35 diseases for VLDLR (see all 35):    About MalaCards
    vldlr-associated cerebellar hypoplasia    cerebellar hypoplasia    cerebellar hypoplasia and mental retardation with or without quadrupedal locomotion 1    age related macular degeneration
    inclusion body myositis    cerebellar ataxia with mental retardation    common cold    dysequilibrium syndrome
    cerebellar ataxia    macular degeneration    carotid artery disease    focal glomerulosclerosis
    short stature    hypertriglyceridemia    glomerulosclerosis    myositis
    insulin resistance    strabismus    lissencephaly    alzheimer's disease

    1 disease from the University of Copenhagen DISEASES database for VLDLR:
    Lissencephaly

    10/15 Novoseek disease relationships for VLDLR gene (see all 15)    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    cerebellar hypoplasia 70.3 2 18043714 (1), 18364738 (1)
    alzheimers disease 47.6 13 8786409 (2), 9562467 (2), 8761993 (2), 9577654 (1) (see all 9)
    hypertriglyceridemia 38.3 2 16478678 (1), 11790777 (1)
    senile plaques 33.3 3 8786409 (2), 11743951 (1)
    atherosclerosis 28.8 4 19224153 (1), 8669483 (1), 11254915 (1)
    adenocarcinoma gastric 14.4 3 10629142 (2), 15884130 (1)
    autistic 8.23 2 15820235 (1), 12363388 (1)
    tumors 2.92 2 16715143 (1), 10629142 (1)
    breast carcinoma 0 2 7657671 (1), 9346319 (1)
    schizophrenia 0 9 15098360 (3), 12363388 (3), 17936586 (2), 17261317 (1)

    GeneTests: VLDLR
    VLDLR-Associated Cerebellar Hypoplasia

    Genetic Association Database (GAD): VLDLR
    Human Genome Epidemiology (HuGE) Navigator: VLDLR (15 documents)

    Export disorders for VLDLR gene to outside databases

    Publications
    for VLDLR gene

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
    About This Section

    PubMed articles for VLDLR gene, integrated from 9 sources (see all 217):
    (articles sorted by number of sources associating them with VLDLR)    		    Utopia: connect your pdf to the dynamic
    world of online information

    1. Structure, chromosome location, and expression of the human very low density lipoprotein receptor gene. (PubMed id 8294473)1, 2, 3, 9 Sakai J.... Yamamoto T. (1994)
    2. Human very-low-density lipoprotein receptor complementary DNA and deduced amino acid sequence and localization of its gene (VLDLR) to chromosome band 9p24 by fluorescence in situ hybridization. (PubMed id 8020981)1, 2, 9 Oka K.... Chan L. (1994)
    3. The proprotein convertase PCSK9 induces the degradation of low density lipoprotein receptor (LDLR) and its closest family members VLDLR and ApoER2. (PubMed id 18039658)1, 2, 9 Poirier S....Seidah N.G. (2008)
    4. Functional candidate genes in age-related macular degeneration: significant association with VEGF, VLDLR, and LRP6. (PubMed id 16384981)1, 4, 9 Haines J.L....Pericak-Vance M.A. (2006)
    5. Association of polymorphisms in CYP17A1, MTP, and VLDLR with bone mineral density in community-dwelling Japanese women and men. (PubMed id 15953542)1, 4, 9 Yamada Y....Shimokata H. (2005)
    6. A cellular receptor of human rhinovirus type 2, the very-low-density lipoprotein receptor, binds to two neighboring proteins of the viral capsid. (PubMed id 12857919)1, 2, 9 Neumann E.... Hewat E.A. (2003)
    7. The relationship among apolipoprotein(a) polymorphisms, the low-density lipoprotein receptor-related protein, and the very low density lipoprotein receptor genes, and plasma lipoprotein(A) concentration in the Czech population. (PubMed id 11931574)1, 4, 9 Benes P....Vacha J. (2002)
    8. Association analysis of polymorphic CGG repeat in 5' UTR of the reelin and VLDLR genes with schizophrenia. (PubMed id 12363388)1, 4, 9 Akahane A....Nanko S. (2002)
    9. VLDL receptor polymorphism, cognitive impairment, and dementia. (PubMed id 11342683)1, 4, 9 Helbecque N....Amouyel P. (2001)
    10. Homozygous deletion of the very low density lipoprotein receptor gene causes autosomal recessive cerebellar hypoplasia with cerebral gyral simplification. (PubMed id 16080122)1, 2, 9 Boycott K.M....Parboosingh J.S. (2005)

    External Searches for VLDLR gene

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Disorders
    Free Text  
      Query String
    		PubMed
    OMIM
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      (Note: In FireFox, select the above section and copy using Ctrl-C)

    Genome Databases showing VLDLR gene

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 7436 HGNC: 12698 AceView: VLDLR Ensembl:ENSG00000147852 euGenes: HUgn7436
    ECgene: VLDLR H-InvDB: VLDLR

    Other Databases showing VLDLR gene

    (According to HUGE)
    About This Section
    		   --

    Specialized Databases showing VLDLR gene

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for VLDLR Pharmacogenomics, SNPs, Pathways
    SeattleSNPshttp://pga.gs.washington.edu/data/vldlr/

    Intellectual Property
    for VLDLR gene

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    		Patent Information for VLDLR gene:
    Search GeneIP for patents involving VLDLR

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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    About This Section

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     VLDLR Proteins, Antibodies, CLIAs, and ELISAs
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